Incidental Mutation 'IGL02246:Phkg1'
| ID |
286200 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phkg1
|
| Ensembl Gene |
ENSMUSG00000025537 |
| Gene Name |
phosphorylase kinase gamma 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL02246
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129892272-129907953 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129893479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 324
(R324W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026617]
[ENSMUST00000137357]
[ENSMUST00000140667]
[ENSMUST00000154932]
[ENSMUST00000171300]
|
| AlphaFold |
P07934 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026617
AA Change: R324W
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026617
Gene: ENSMUSG00000025537
AA Change: R324W
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
288 |
3.79e-106 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122826
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137357
|
| SMART Domains |
Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:FGE-sulfatase
|
25 |
136 |
6.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140667
|
| SMART Domains |
Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
20 |
143 |
4.1e-9 |
PFAM |
|
Pfam:Pkinase
|
20 |
144 |
3.2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154495
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154932
|
| SMART Domains |
Protein: ENSMUSP00000122040
Gene: ENSMUSG00000025537
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
95 |
3.6e-13 |
PFAM |
|
Pfam:Pkinase
|
1 |
100 |
7.3e-32 |
PFAM |
|
Pfam:Kdo
|
3 |
77 |
8.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171300
|
| SMART Domains |
Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:FGE-sulfatase
|
34 |
299 |
3.9e-88 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
G |
T |
4: 123,754,655 (GRCm39) |
D190Y |
probably damaging |
Het |
| Acat1 |
G |
A |
9: 53,496,166 (GRCm39) |
L324F |
probably benign |
Het |
| Ago2 |
T |
C |
15: 72,980,267 (GRCm39) |
H743R |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,632 (GRCm39) |
L2305F |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,789,779 (GRCm39) |
H2438Q |
probably damaging |
Het |
| Atm |
G |
T |
9: 53,438,485 (GRCm39) |
Q162K |
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,831,196 (GRCm39) |
E254V |
probably damaging |
Het |
| Carns1 |
T |
A |
19: 4,216,431 (GRCm39) |
N584Y |
possibly damaging |
Het |
| Cmklr1 |
T |
C |
5: 113,752,461 (GRCm39) |
N180S |
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,788,306 (GRCm39) |
R1565* |
probably null |
Het |
| Fbxo43 |
T |
A |
15: 36,162,842 (GRCm39) |
I122L |
probably benign |
Het |
| Fibp |
A |
G |
19: 5,513,264 (GRCm39) |
Y193C |
probably damaging |
Het |
| Gm10923 |
A |
G |
15: 85,001,132 (GRCm39) |
|
probably benign |
Het |
| Il12rb2 |
A |
G |
6: 67,285,940 (GRCm39) |
|
probably null |
Het |
| Jakmip2 |
T |
C |
18: 43,700,223 (GRCm39) |
E445G |
possibly damaging |
Het |
| Krcc1 |
G |
A |
6: 71,261,405 (GRCm39) |
D146N |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,284,411 (GRCm39) |
D43E |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,172,486 (GRCm39) |
K824R |
probably benign |
Het |
| Or2o1 |
T |
C |
11: 49,050,921 (GRCm39) |
S27P |
probably benign |
Het |
| Or51g2 |
T |
C |
7: 102,622,951 (GRCm39) |
T83A |
possibly damaging |
Het |
| Plcd1 |
G |
A |
9: 118,901,677 (GRCm39) |
L616F |
probably benign |
Het |
| Rnf141 |
A |
T |
7: 110,424,494 (GRCm39) |
S122T |
probably benign |
Het |
| Tap1 |
G |
A |
17: 34,412,963 (GRCm39) |
V593M |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,325,076 (GRCm39) |
L534P |
probably damaging |
Het |
| Ubr4 |
G |
T |
4: 139,186,414 (GRCm39) |
E640D |
possibly damaging |
Het |
| Vmn1r169 |
A |
C |
7: 23,276,661 (GRCm39) |
I18L |
probably benign |
Het |
|
| Other mutations in Phkg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Phkg1
|
APN |
5 |
129,893,914 (GRCm39) |
nonsense |
probably null |
|
|
IGL01116:Phkg1
|
APN |
5 |
129,893,813 (GRCm39) |
splice site |
probably null |
|
|
IGL01713:Phkg1
|
APN |
5 |
129,895,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02803:Phkg1
|
APN |
5 |
129,894,895 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02954:Phkg1
|
APN |
5 |
129,894,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Phkg1
|
UTSW |
5 |
129,894,772 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0041:Phkg1
|
UTSW |
5 |
129,903,103 (GRCm39) |
missense |
probably benign |
|
|
R0140:Phkg1
|
UTSW |
5 |
129,893,449 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0321:Phkg1
|
UTSW |
5 |
129,898,365 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0646:Phkg1
|
UTSW |
5 |
129,893,394 (GRCm39) |
splice site |
probably null |
|
|
R1142:Phkg1
|
UTSW |
5 |
129,902,073 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1446:Phkg1
|
UTSW |
5 |
129,902,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2350:Phkg1
|
UTSW |
5 |
129,893,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2896:Phkg1
|
UTSW |
5 |
129,893,471 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4773:Phkg1
|
UTSW |
5 |
129,902,114 (GRCm39) |
splice site |
probably null |
|
|
R7236:Phkg1
|
UTSW |
5 |
129,895,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7499:Phkg1
|
UTSW |
5 |
129,902,109 (GRCm39) |
nonsense |
probably null |
|
|
R7658:Phkg1
|
UTSW |
5 |
129,894,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Phkg1
|
UTSW |
5 |
129,902,699 (GRCm39) |
start gained |
probably benign |
|
|
R8686:Phkg1
|
UTSW |
5 |
129,895,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Phkg1
|
UTSW |
5 |
129,893,894 (GRCm39) |
missense |
probably benign |
|
|
R9090:Phkg1
|
UTSW |
5 |
129,893,863 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9271:Phkg1
|
UTSW |
5 |
129,893,863 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9627:Phkg1
|
UTSW |
5 |
129,893,376 (GRCm39) |
nonsense |
probably null |
|
|
R9781:Phkg1
|
UTSW |
5 |
129,895,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Phkg1
|
UTSW |
5 |
129,895,096 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation